Homo sapiens Protein: HELLS
Summary
InnateDB Protein IDBP-242335.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HELLS
Protein Name helicase, lymphoid-specific
Synonyms LSH; PASG; SMARCA6;
Species Homo sapiens
Ensembl Protein ENSP00000377609
InnateDB Gene IDBG-83141 (HELLS)
Protein Structure
UniProt Annotation
Function Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). {ECO:0000250UniProtKB:Q60848}.
Subcellular Localization Nucleus {ECO:0000250}. Note=Closely associated with pericentric heterochromatin. {ECO:0000250}.
Disease Associations
Tissue Specificity Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias. {ECO:0000269PubMed:10910076}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 22 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0006346 methylation-dependent chromatin silencing
GO:0006351 transcription, DNA-templated
GO:0007067 mitotic nuclear division
GO:0007275 multicellular organismal development
GO:0010216 maintenance of DNA methylation
GO:0031508 centromeric heterochromatin assembly
GO:0046651 lymphocyte proliferation
Cellular Component
GO:0000775 chromosome, centromeric region
GO:0005634 nucleus
GO:0005721 centromeric heterochromatin
Protein Structure and Domains
PDB ID
InterPro IPR000330 SNF2-related
IPR001650 Helicase, C-terminal
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00176
PF00271
PRINTS
PIRSF
SMART SM00490
SM00487
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NRZ9
PhosphoSite PhosphoSite-Q9NRZ9
TrEMBL B1ALG6
UniProt Splice Variant
Entrez Gene 3070
UniGene Hs.655830
RefSeq NP_001276001
HUGO HGNC:4861
OMIM 603946
CCDS CCDS73163
HPRD 07232
IMGT
EMBL AB074174 AB102717 AB102718 AB102719 AB102720 AB102721 AB102722 AB113249 AF155827 AK314485 AL138759 AY007108 BC015477 BC029381 BC030963 BC031004 BX538033 CH471066
GenPept AAF82262 AAG01987 AAH15477 AAH29381 AAH30963 AAH31004 BAD10845 BAD10846 BAD10847 BAD10848 BAD10849 BAD10850 BAD24805 BAE45737 BAG37088 CAD13191 CAD97978 EAW50035